ClinVar Miner

List of variants reported as benign for cataract 21 multiple types

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01145
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00061
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.